The list of clinical trials and studies is constantly changing and people are advised to seek out the latest information from your medical specialists or by contacting The following was current at the time of writing this document.

The Natural History Study at the National Institutes of Health

The US-NIH, currently has a Natural History study for individuals who have been diagnosed with HLRCC or who have the clinical symptoms that might imply a possible diagnosis.

If you have an interest in the US-NIH Study, contact:
Debbie Nielsen, BSN
Genetic Counselor
Urologic Oncology Branch
National Cancer Institute
National Institutes of Health
Bldg. 10, CRC, Rm. 2W-5740
9000 Rockville Pike
Bethesda MD 20892
T: (301) 451-4093
F: (301) 435-9262


Other contact:
Cris Leite
Patient Care Coordinator
T: (301) 402-6507

The US-NIH website:
"Genetic Study of Cancer Risk and Gene Identification in Patients and Families With Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome"

Phase II Study of Bevacizumab and Erlotinib
"A Phase II Study of Bevacizumab and Erlotinib in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Sporadic Papillary Renal Cell Cancer"

This clinical trial of bevacizumab (AVASTIN® | Genentech, Inc.) and erlotinib (Tarceva® is ongoing, and is again (May 7, 2015) recruiting patients with papillary kidney cancer that has spread (metastasized) beyond the kidneys. Very good interim results have been reported in Kidney cancer patients respond well to a combination of two existing anti-cancer drugs

In Annual Meeting News W. Marston Linehan, M.D is reported as saying:

"As for HLRCC syndrome, NCI began focusing on this familial kidney cancer syndrome in the 1980s. Researchers learned that these patients develop a particularly aggressive form of type 2 papillary kidney cancer. In addition to raised and painful cutaneous leiomyomas, 90 percent of female patients in these HLRCC syndrome families also develop uterine fibroids."

"HLRCC is one of the most malignant types of kidney cancer there is," Dr. Linehan said. "It needs to be detected because it can spread early and can be lethal."

HLRCC syndrome is caused by an alteration of the Krebs cycle enzyme, fumarate hydratase. In studying this fumarate hydratase pathway in HLRCC, NCI researchers learned that when the fumarate hydratase gene in the cancer cell is damaged, it alters its metabolism significantly, becoming exceptionally dependent on glycolysis and glucose uptake.

"We have developed an approach to treatment that involves using bevacizumab and erlotinib, therapeutic agents that target the vulnerability of this fumarate hydratase pathway in HLRCC patients with advanced kidney cancer," Dr. Linehan said. "This is currently an ongoing clinical trial, and we are cautiously optimistic about the early results."

He also reported that blood tests are available to assist clinicians in making a diagnosis by detecting fumarate hydratase (FH) for HLRCC syndrome and folliculin (FLCN) for BHD syndrome.

"In both of these hereditary cancer syndromes, it is important for dermatologists and other clinicians to understand the significance of fibrofolliculomas and leiomyomas," Dr. Linehan said. "These patients need to be evaluated for the possible presence of kidney cancer when they present with these dermatologic findings." Listen to W. Marston Linehan, M.D (MP3)

Editor’s Note: Additional drugs will be forthcoming that will target the FH pathway. Stay tuned for more news.

Phase I/II Study of Vandetanib and Metformin
"Vandetanib in Combination With Metformin in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell Carcinoma"

This Phase I/II clinical trial of vandetanib (CAPRELSA® | AstraZeneca United States ) and metformin is ongoing, and recruiting (July, 2015) patients with papillary kidney cancer that has spread (metastasized) beyond the kidneys.

Phase II Trial of the DNA Methyl Transferase Inhibitor Guadecitabine (SGI-110)

A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer

Wild-type gastrointestinal stromal tumor (GIST) is a cancer in the esophagus, stomach, or intestines. It does not respond well to standard chemotherapy or radiation therapy. Most people with GIST are treated with imatinib. But it may not work in many children with GIST. Researchers think the drug SGI-110 may help treat people with GIST, pheochromocytoma and paraganglioma (PHEO/PGL), or kidney cancer related to hereditary leiomyomatosis and renal cell carcinoma (HLRCC).

Phase I Study of the Glutaminase Inhibitor CB-839 in Solid Tumors

This phase I trial using CB-839 is recruiting (December, 2015) patients with Fumarate Hydratase (FH)-deficient tumors.

Phase 2 Trial Olaparib with and without AZD1775, AZD5363, and AZD2014 in Treating Patients with Advanced Solid Tumors

Researchers at Yale have just opened a clinical trial that they believe specifically addresses the underlying biology of HLRCC. (They are actively looking for HLRCC patients at this time). Their description in lay language: Cancer patients with a family history of FH or SDH mutations, or tumors found to have these mutations. These mutations most typically appear in patients with hereditary kidney cancers including syndromes such as HLRCC. Genetic testing must have been completed that confirms the presence of this mutation. For patients with a history of HLRCC, the investigators at Yale can assist with confirmation of the mutation in the tumor(s). HOW do I get more information? Contact or

There is more information in a conversation in Smart Patients.

Treatment of Cutaneous Leiomyomas with Botulinum Toxin "Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas with Botulinum Toxin"
This study is ongoing, but no longer recruiting participants.

This NIH study has published a result "The use of botulinum toxin to treat painful cutaneous leiomyomas was associated with improved quality of life and with a trend toward improved pain at rest." Efficacy of Intralesional Botulinum Toxin A for Treatment of Painful Cutaneous Leiomyomas: A Randomized Clinical Trial.

Intravenous Recombinant Human IL-15
"A Phase I Study of Intravenous Recombinant Human IL-15 in Adults With Refractory Metastatic Malignant Melanoma and Metastatic Renal Cell Cancer"
This study has completed. No results yet published.

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Last modified: December 13 2017 22:28:36.